POLA2 c.1747G>T ;(p.G583W)

Variant ID: 11-65064690-G-T

NM_002689.2(POLA2):c.1747G>T;(p.G583W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness.

Bmc Genomics
Yang, Zhikun Z; Yang, Jingyun J; Liu, Di D; Yu, Weihong W
Publication Date: 2021-07-07

Variant appearance in text: rs487989
PubMed Link: 34233613
Variant Present in the following documents:
  • Main text
  • 12864_2021_Article_7860.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs487989
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



DNArCdb: A database of cancer biomarkers in DNA repair genes that includes variants related to multiple cancer phenotypes.

Dna Repair
Silvestrov, Pavel P; Maier, Sarah J SJ; Fang, Michelle M; Cisneros, G Andrés GA
Publication Date: 2018-10

Variant appearance in text: rs487989
PubMed Link: 30098577
Variant Present in the following documents:
  • Main text
View BVdb publication page



Knockdown of POLA2 increases gemcitabine resistance in lung cancer cells.

Bmc Genomics
Koh, Vivien V; Kwan, Hsueh Yin HY; Tan, Woei Loon WL; Mah, Tzia Liang TL; Yong, Wei Peng WP
Publication Date: 2016-12-22

Variant appearance in text: rs487989
PubMed Link: 28155658
Variant Present in the following documents:
  • Main text
  • 12864_2016_Article_3322.pdf
View BVdb publication page



Genome-wide association study of sporadic brain arteriovenous malformations.

Journal Of Neurology, Neurosurgery, And Psychiatry
Weinsheimer, Shantel S; Bendjilali, Nasrine N; Nelson, Jeffrey J; Guo, Diana E DE; Zaroff, Jonathan G JG; Sidney, Stephen S; McCulloch, Charles E CE; Al-Shahi Salman, Rustam R; Berg, Jonathan N JN; Koeleman, Bobby P C BP; Simon, Matthias M; Bostroem, Azize A; Fontanella, Marco M; Sturiale, Carmelo L CL; Pola, Roberto R; Puca, Alfredo A; Lawton, Michael T MT; Young, William L WL; Pawlikowska, Ludmila L; Klijn, Catharina J M CJ; Kim, Helen H; ,
Publication Date: 2016-09

Variant appearance in text: rs487989
PubMed Link: 26818729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs487989
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page